This nuclear gene encodes a mitochondrial protein which belongs to the FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA from 8-33 repeats to >90 repeats results in Friedreich ataxia. Alternative splicing results in multiple transcript variants.
应用类型
WB, IHC, IF/ICC
免疫原
Recombinant fusion protein of human FXN / Frataxin(NP_000135.2).
